A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232173



Internal ID22372438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96404922..96405253hg38UCSC Ensembl
chr6:96852798..96853129hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436621, nssv14452610, nssv14410719
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232173
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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